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Journal Abstract Search

215 related items for PubMed ID: 8288243

  • 1. A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
    Haubenwallner S, Hörl G, Shachter NS, Presta E, Fried SK, Höfler G, Kostner GM, Breslow JL, Zechner R.
    Genomics; 1993 Nov; 18(2):392-6. PubMed ID: 8288243
    [Abstract] [Full Text] [Related]

  • 2. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
    Ikeda Y, Goji K, Takagi A.
    Clin Sci (Lond); 2000 Dec; 99(6):569-78. PubMed ID: 11099402
    [Abstract] [Full Text] [Related]

  • 3. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
    Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Havel RJ, Schotz MC.
    J Clin Invest; 1991 Apr; 87(4):1165-70. PubMed ID: 2010533
    [Abstract] [Full Text] [Related]

  • 4. Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
    Takagi A, Ikeda Y, Tsutsumi Z, Shoji T, Yamamoto A.
    J Clin Invest; 1992 Feb; 89(2):581-91. PubMed ID: 1737848
    [Abstract] [Full Text] [Related]

  • 5. Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations.
    Hooper AJ, Crawford GM, Brisbane JM, Robertson K, Watts GF, van Bockxmeer FM, Burnett JR.
    Ann Clin Biochem; 2008 Jan; 45(Pt 1):102-5. PubMed ID: 18275685
    [Abstract] [Full Text] [Related]

  • 6. A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis.
    Yu XH, Zhao TQ, Wang L, Liu ZP, Zhang CM, Chen R, Li L, Liu G, Hu WC.
    Biochem Biophys Res Commun; 2006 Mar 03; 341(1):82-7. PubMed ID: 16431216
    [Abstract] [Full Text] [Related]

  • 7. Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes.
    Yang T, Pang CP, Tsang MW, Lam CW, Poon PM, Chan LY, Wu XQ, Tomlinson B, Baum L.
    Hum Mutat; 2003 Apr 03; 21(4):453. PubMed ID: 12655575
    [Abstract] [Full Text] [Related]

  • 8. A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.
    Kobayashi J, Sasaki N, Tashiro J, Inadera H, Saito Y, Yoshida S.
    Biochem Biophys Res Commun; 1993 Mar 31; 191(3):1046-54. PubMed ID: 8096693
    [Abstract] [Full Text] [Related]

  • 9. Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online.
    Evans D, Wendt D, Ahle S, Guerra A, Beisiegel U.
    Hum Mutat; 1998 Mar 31; 12(3):217. PubMed ID: 10660334
    [Abstract] [Full Text] [Related]

  • 10. A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
    Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M.
    Hum Mutat; 1997 Mar 31; 10(3):179-85. PubMed ID: 9298816
    [Abstract] [Full Text] [Related]

  • 11. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.
    Lam CW, Yuen YP, Cheng WF, Chan YW, Tong SF.
    Clin Chim Acta; 2006 Feb 31; 364(1-2):256-9. PubMed ID: 16153625
    [Abstract] [Full Text] [Related]

  • 12. A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion.
    Kobayashi J, Inadera H, Fujita Y, Talley G, Morisaki N, Yoshida S, Saito Y, Fojo SS, Brewer HB.
    Biochem Biophys Res Commun; 1994 Nov 30; 205(1):506-15. PubMed ID: 7999071
    [Abstract] [Full Text] [Related]

  • 13. Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.
    Ma Y, Liu MS, Chitayat D, Bruin T, Beisiegel U, Benlian P, Foubert L, De Gennes JL, Funke H, Forsythe I.
    Hum Mutat; 1994 Nov 30; 3(1):52-8. PubMed ID: 7906986
    [Abstract] [Full Text] [Related]

  • 14. Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency.
    Henderson HE, Devlin R, Peterson J, Brunzell JD, Hayden MR.
    Mol Biol Med; 1990 Dec 30; 7(6):511-7. PubMed ID: 2077351
    [Abstract] [Full Text] [Related]

  • 15. Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis.
    Hoffmann MM, Jacob S, Luft D, Schmülling RM, Rett K, März W, Häring HU, Matthaei S.
    J Clin Endocrinol Metab; 2000 Dec 30; 85(12):4795-8. PubMed ID: 11134145
    [Abstract] [Full Text] [Related]

  • 16. A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats.
    Ginzinger DG, Lewis ME, Ma Y, Jones BR, Liu G, Jones SD.
    J Clin Invest; 1996 Mar 01; 97(5):1257-66. PubMed ID: 8636438
    [Abstract] [Full Text] [Related]

  • 17. [Mutagenic aspects of the lipoprotein lipase gene].
    Petrescu-Dănilă E, Voicu PM, Ionescu CR.
    Rev Med Chir Soc Med Nat Iasi; 2006 Mar 01; 110(1):173-7. PubMed ID: 19292100
    [Abstract] [Full Text] [Related]

  • 18. Lipoprotein lipase: recent contributions from molecular biology.
    Auwerx J, Leroy P, Schoonjans K.
    Crit Rev Clin Lab Sci; 1992 Mar 01; 29(3-4):243-68. PubMed ID: 1489519
    [Abstract] [Full Text] [Related]

  • 19. A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
    Ishimura-Oka K, Faustinella F, Kihara S, Smith LC, Oka K, Chan L.
    Am J Hum Genet; 1992 Jun 01; 50(6):1275-80. PubMed ID: 1598907
    [Abstract] [Full Text] [Related]

  • 20. [Molecular genetics and lipoprotein lipase deficiency].
    Foubert L, Benlian P, de Gennes JL.
    Bull Acad Natl Med; 1994 Mar 01; 178(3):405-13. PubMed ID: 8076180
    [Abstract] [Full Text] [Related]

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